A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745091



Internal ID9979375
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:113934655..113935677hg38UCSC Ensembl
Outerchr11:113805377..113806399hg19UCSC Ensembl
Cytoband11q23.2
Allele length
AssemblyAllele length
hg381023
hg191023
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6894589, essv6737721, essv6768443, essv6743969, essv6677749, essv6763335
SamplesSSM007, SSM053, SSM064, SSM032, SSM062, SSM098
Known GenesHTR3B
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2745091
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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